Alice Melão,  —

Heart problems are less common, and milder in severity, in people with Sanfilippo syndrome compared with other forms of mucopolysaccharidosis, a Taiwanese study has found. The cardiac problems identified by the researchers included valvular heart disease due to aortic valve abnormalities and valve narrowing, which worsened with…

Active tissue remodeling and treatment-resistant accumulation of toxic molecules are contributing factors in the development of persistent upper airway disease among patients with mucopolysaccharidosis (MPS), a study shows. The study, “Substrate accumulation and extracellular matrix remodelling promote persistent upper airway disease in mucopolysaccharidosis patients on enzyme…

Alpha-synuclein protein is not responsible for the onset of cognitive and motor symptoms associated with Sanfilippo syndrome type A, a mouse study suggests. The study, “Early disease course is unaltered in MPS IIIA mice lacking α‐synuclein,” was published in Neuropathology and Applied Neurobiology. Sanfilippo syndrome type…

Nonprofit research foundation Team Sanfilippo (TSF) is preparing to launch a Phase 2 clinical trial to explore the safety and efficacy of a common sugar called trehalose as a treatment for patients with Sanfilippo syndrome. This follows a collaborative agreement that was initially made with Bioblast Pharma, the therapy’s…

Abeona Therapeutics is planning to expand its ongoing ABO-102 gene therapy Phase 1/2 trial to include patients with Sanfilippo syndrome type A (MPS IIIA) at earlier stages of the disease. “The encouraging data generated to date and our interactions with the U.S. Food and Drug Administration (FDA) and European…

Two new experimental stem cell lines derived from a patient with mucopolysaccharydosis IIIB (MPSIIIB), also known as Sanfilippo syndrome type B, were developed by Spanish researchers. These stem cells will complement existing mouse models of the disease and may allow the development of a more reliable human model of…

Administration of an engineered version of the heparan-N-sulfatase (HNS) enzyme into the cerebrospinal fluid directly through the spinal canal failed to improve neurocognitive activity in infants with early-stage Sanfilippo syndrome type A, results from a Phase 2b trial show. However, the investigational enzyme replacement therapy (ERT) held some therapeutic activity…

Very little is still known about the clinical features and natural course of Sanfilippo syndrome, also known as mucopolysaccharidosis (MPS) III, a rare disease that can significantly affect children’s development and lead to poor outcomes, a review study highlights. The study, “Epidemiology of Sanfilippo syndrome:…

A comprehensive analysis of compounds present in the urine of patients with Sanfilippo syndrome provides new insight into the biological processes likely involved in the disease. The research could help to eventually identify disease biomarkers. The study, “Unveiling metabolic remodeling in mucopolysaccharidosis type III through integrative metabolomics and…

A common sugar often used as a food additive was seen to ease inflammation in the brain and retina, and extend the life of Sanfilippo disease IIIB (mucopolysaccharidosis IIIB) mice in a preclinical study. The study, “Trehalose reduces retinal degeneration, neuroinflammation and storage burden caused by a lysosomal…